Hypophosphatämische Rachitis mit Hyperparathyroidismus

Urakawa I et al. (2006) Klotho converts canonical FGF receptor into a specific receptor for FGF23.

Kurosu H et al. (2005) Suppression of aging in mice by the hormone Klotho.

Chen CD et al. (2007) Insulin stimulates the cleavage and release of the extracellular domain of Klotho by ADAM10 and ADAM17.

Ichikawa S et al. (2007) A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis.

Kuro-o M et al. (1997) Mutation of the mouse klotho gene leads to a syndrome resembling ageing.

Matsumura Y et al. (1998) Identification of the human klotho gene and its two transcripts encoding membrane and secreted klotho protein.

Saito Y et al. (2000) In vivo klotho gene delivery protects against endothelial dysfunction in multiple risk factor syndrome.

Mori K et al. (2000) Disruption of klotho gene causes an abnormal energy homeostasis in mice.

Koh N et al. (2001) Severely reduced production of klotho in human chronic renal failure kidney.

Arking DE et al. (2002) Association of human aging with a functional variant of klotho.

Fukino K et al. (2002) Regulation of angiogenesis by the aging suppressor gene klotho.

Manya H et al. (2002) Klotho protein deficiency leads to overactivation of mu-calpain.

Arking DE et al. (2003) KLOTHO allele status and the risk of early-onset occult coronary artery disease.

Bektas A et al. (2004) Klotho gene variation and expression in 20 inbred mouse strains.

Chang Q et al. (2005) The beta-glucuronidase klotho hydrolyzes and activates the TRPV5 channel.

Haruna Y et al. (2007) Amelioration of progressive renal injury by genetic manipulation of Klotho gene.

Imura A et al. (2007) alpha-Klotho as a regulator of calcium homeostasis.

Liu H et al. (2007) Augmented Wnt signaling in a mammalian model of accelerated aging.

Brownstein CA et al. (2008) A translocation causing increased alpha-klotho level results in hypophosphatemic rickets and hyperparathyroidism.

OMIM.ORG article